Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/67234

Titlep.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease
Author(s)Carvalho Silva, Daniela Marisa
Marques, Nuno
Azevedo, Olga
Miltenberger-Miltenyi, Gabriel
Bento, Dina
Guedes, João
Azevedo, Pedro
Bispo, João
Mota, Teresa
Fernandes, Raquel
Nzwalo, Hipólito
Cabrita, Ana
Ramos, André
de Jesus, Ilídio
KeywordsEchocardiography
Fabry Disease
Humans
Male
Middle Aged
Mutation, Missense
Phenotype
alpha-Galactosidase
Classic phenotype
Missense mutation
GLA gene
p
G360R
p.G360R
Issue date2019
PublisherKarger Publishers
JournalCardiology
CitationSilva, D. M. C., Marques, N., Azevedo, O., Miltenberger-Miltenyi, G., Bento, D., Guedes, J., ... & Nzwalo, H. (2019). p. G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. Cardiology, 144(3-4), 125-130
Abstract(s)The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
TypeArticle
URIhttp://hdl.handle.net/1822/67234
DOI10.1159/000502437
ISSN0008-6312
e-ISSN1421-9751
Publisher versionhttps://www.karger.com/Article/Abstract/502437
Peer-Reviewedyes
AccessRestricted access (Author)
Appears in Collections:ICVS - Artigos em revistas internacionais / Papers in international journals

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